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Ontology Browser

Term:
congenital muscular dystrophy-dystroglycanopathy type A12 (DOID:0111235)
Annotations: Rat: (5) Mouse: (5) Human: (6) Chinchilla: (5) Bonobo: (5) Dog: (5) Squirrel: (5) Pig: (5)
Parent Terms Term With Siblings Child Terms
congenital muscular dystrophy-dystroglycanopathy A14  
congenital muscular dystrophy-dystroglycanopathy A7  
congenital muscular dystrophy-dystroglycanopathy type A1  
congenital muscular dystrophy-dystroglycanopathy type A10  
congenital muscular dystrophy-dystroglycanopathy type A11  
congenital muscular dystrophy-dystroglycanopathy type A12  
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21. (DO)
congenital muscular dystrophy-dystroglycanopathy type A13  
congenital muscular dystrophy-dystroglycanopathy type A2  
congenital muscular dystrophy-dystroglycanopathy type A3  
congenital muscular dystrophy-dystroglycanopathy type A5  
congenital muscular dystrophy-dystroglycanopathy type A6  
congenital muscular dystrophy-dystroglycanopathy type A8  
congenital muscular dystrophy-dystroglycanopathy type A9  
Fukuyama congenital muscular dystrophy  

Synonyms
Exact Synonyms: MDDGA12 ;   Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 12 ;   WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED ;   congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
Primary IDs: OMIM:615249
Alternate IDs: RDO:9000880
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23519211 "DO"

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